16-68736795-GAAA-GAAAAA

Position:

• chr16-68736795-GAAA-GAAAAA

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.041 (250 hom., cov: 0)
• Consequence: intergenic_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.752

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.106 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.68736795_68736796insAA		intergenic_region

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.0409 AC: 6139 AN: 150202 Hom.: 247 Cov.: 0

Gnomad AFR AF: 0.108

Gnomad AMI AF: 0.00332

Gnomad AMR AF: 0.0243

Gnomad ASJ AF: 0.0189

Gnomad EAS AF: 0.000197

Gnomad SAS AF: 0.00361

Gnomad FIN AF: 0.00887

Gnomad MID AF: 0.0380

Gnomad NFE AF: 0.0161

Gnomad OTH AF: 0.0411

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.0409 AC: 6150 AN: 150316 Hom.: 250 Cov.: 0 AF XY: 0.0386 AC XY: 2828 AN XY: 73296

Gnomad4 AFR AF: 0.108

Gnomad4 AMR AF: 0.0242

Gnomad4 ASJ AF: 0.0189

Gnomad4 EAS AF: 0.000198

Gnomad4 SAS AF: 0.00319

Gnomad4 FIN AF: 0.00887

Gnomad4 NFE AF: 0.0161

Gnomad4 OTH AF: 0.0407

Alfa AF: 0.0124 Hom.: 1595

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs34561447; hg19: chr16-68770698;